ID HLAH_HUMAN Reviewed; 362 AA. AC P01893; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 05-OCT-2010, sequence version 3. DT 13-FEB-2019, entry version 148. DE RecName: Full=Putative HLA class I histocompatibility antigen, alpha chain H; DE AltName: Full=HLA-12.4; DE AltName: Full=HLA-AR; DE AltName: Full=MHC class I antigen H; DE Flags: Precursor; GN Name=HLA-H; Synonyms=HLAH; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=6461010; DOI=10.1073/pnas.79.3.893; RA Malissen M., Malissen B., Jordan B.R.; RT "Exon/intron organization and complete nucleotide sequence of an HLA RT gene."; RL Proc. Natl. Acad. Sci. U.S.A. 79:893-897(1982). CC -!- FUNCTION: Involved in the presentation of foreign antigens to the CC immune system. CC -!- SUBUNIT: Heterodimer of an alpha chain and a beta chain (beta-2- CC microglobulin). CC -!- INTERACTION: CC P11142:HSPA8; NbExp=2; IntAct=EBI-3197925, EBI-351896; CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass CC membrane protein {ECO:0000305}. CC -!- SIMILARITY: Belongs to the MHC class I family. {ECO:0000305}. CC -!- CAUTION: Could be the product of a pseudogene. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAA36218.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- DR EMBL; J00191; AAA36218.1; ALT_INIT; Genomic_DNA. DR PIR; A02189; HLHU12. DR UniGene; Hs.181244; -. DR UniGene; Hs.713441; -. DR UniGene; Hs.728808; -. DR ProteinModelPortal; P01893; -. DR SMR; P01893; -. DR IntAct; P01893; 3. DR iPTMnet; P01893; -. DR SwissPalm; P01893; -. DR BioMuta; HGNC:4965; -. DR EPD; P01893; -. DR jPOST; P01893; -. DR MaxQB; P01893; -. DR PeptideAtlas; P01893; -. DR PRIDE; P01893; -. DR ProteomicsDB; 51507; -. DR DisGeNET; 3136; -. DR GeneCards; HLA-H; -. DR HGNC; HGNC:4965; HLA-H. DR MIM; 142800; gene. DR neXtProt; NX_P01893; -. DR HOVERGEN; HBG016709; -. DR InParanoid; P01893; -. DR PhylomeDB; P01893; -. DR Reactome; R-HSA-1236974; ER-Phagosome pathway. DR Reactome; R-HSA-1236977; Endosomal/Vacuolar pathway. DR Reactome; R-HSA-198933; Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. DR Reactome; R-HSA-6798695; Neutrophil degranulation. DR Reactome; R-HSA-877300; Interferon gamma signaling. DR Reactome; R-HSA-909733; Interferon alpha/beta signaling. DR Reactome; R-HSA-983170; Antigen Presentation: Folding, assembly and peptide loading of class I MHC. DR ChiTaRS; HLA-H; human. DR PRO; PR:P01893; -. DR Proteomes; UP000005640; Unplaced. DR GO; GO:0035577; C:azurophil granule membrane; TAS:Reactome. DR GO; GO:0009986; C:cell surface; IMP:UniProtKB. DR GO; GO:0031901; C:early endosome membrane; TAS:Reactome. DR GO; GO:0012507; C:ER to Golgi transport vesicle membrane; TAS:Reactome. DR GO; GO:0009897; C:external side of plasma membrane; IBA:GO_Central. DR GO; GO:0005615; C:extracellular space; IBA:GO_Central. DR GO; GO:0000139; C:Golgi membrane; TAS:Reactome. DR GO; GO:0071556; C:integral component of lumenal side of endoplasmic reticulum membrane; TAS:Reactome. DR GO; GO:0005887; C:integral component of plasma membrane; NAS:UniProtKB. DR GO; GO:0042612; C:MHC class I protein complex; IEA:UniProtKB-KW. DR GO; GO:0030670; C:phagocytic vesicle membrane; TAS:Reactome. DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central. DR GO; GO:0055038; C:recycling endosome membrane; TAS:Reactome. DR GO; GO:0030881; F:beta-2-microglobulin binding; IMP:UniProtKB. DR GO; GO:0042605; F:peptide antigen binding; IBA:GO_Central. DR GO; GO:0005102; F:signaling receptor binding; IBA:GO_Central. DR GO; GO:0002486; P:antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent; IBA:GO_Central. DR GO; GO:0002476; P:antigen processing and presentation of endogenous peptide antigen via MHC class Ib; IBA:GO_Central. DR GO; GO:0002479; P:antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent; TAS:Reactome. DR GO; GO:0002480; P:antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent; TAS:Reactome. DR GO; GO:0002474; P:antigen processing and presentation of peptide antigen via MHC class I; TAS:Reactome. DR GO; GO:0006955; P:immune response; IBA:GO_Central. DR GO; GO:0060333; P:interferon-gamma-mediated signaling pathway; TAS:Reactome. DR GO; GO:0043312; P:neutrophil degranulation; TAS:Reactome. DR GO; GO:0001916; P:positive regulation of T cell mediated cytotoxicity; IBA:GO_Central. DR GO; GO:0050776; P:regulation of immune response; TAS:Reactome. DR GO; GO:0060337; P:type I interferon signaling pathway; TAS:Reactome. DR Gene3D; 2.60.40.10; -; 1. DR Gene3D; 3.30.500.10; -; 1. DR InterPro; IPR007110; Ig-like_dom. DR InterPro; IPR036179; Ig-like_dom_sf. DR InterPro; IPR013783; Ig-like_fold. DR InterPro; IPR003006; Ig/MHC_CS. DR InterPro; IPR003597; Ig_C1-set. DR InterPro; IPR011161; MHC_I-like_Ag-recog. DR InterPro; IPR037055; MHC_I-like_Ag-recog_sf. DR InterPro; IPR011162; MHC_I/II-like_Ag-recog. DR InterPro; IPR001039; MHC_I_a_a1/a2. DR InterPro; IPR010579; MHC_I_a_C. DR Pfam; PF07654; C1-set; 1. DR Pfam; PF00129; MHC_I; 1. DR Pfam; PF06623; MHC_I_C; 1. DR PRINTS; PR01638; MHCCLASSI. DR SMART; SM00407; IGc1; 1. DR SUPFAM; SSF48726; SSF48726; 1. DR SUPFAM; SSF54452; SSF54452; 1. DR PROSITE; PS50835; IG_LIKE; 1. DR PROSITE; PS00290; IG_MHC; 1. PE 5: Uncertain; KW Cell membrane; Complete proteome; Disulfide bond; Glycoprotein; KW Immunity; Membrane; MHC I; Reference proteome; Signal; Transmembrane; KW Transmembrane helix. FT SIGNAL 1 24 {ECO:0000255}. FT CHAIN 25 362 Putative HLA class I histocompatibility FT antigen, alpha chain H. FT /FTId=PRO_0000018888. FT TOPO_DOM 25 308 Extracellular. {ECO:0000255}. FT TRANSMEM 309 332 Helical. {ECO:0000255}. FT TOPO_DOM 333 362 Cytoplasmic. {ECO:0000255}. FT DOMAIN 209 297 Ig-like C1-type. FT REGION 25 114 Alpha-1. FT REGION 115 206 Alpha-2. FT REGION 207 298 Alpha-3. FT REGION 299 308 Connecting peptide. FT CARBOHYD 110 110 N-linked (GlcNAc...) asparagine. FT {ECO:0000250}. FT DISULFID 227 283 {ECO:0000255|PROSITE-ProRule:PRU00114}. SQ SEQUENCE 362 AA; 40892 MW; 8ADFD2388FEC4645 CRC64; MVLMAPRTLL LLLSGALALT QTWARSHSMR YFYTTMSRPG AGEPRFISVG YVDDTQFVRF DSDDASPREE PRAPWMEREG PKYWDRNTQI CKAQAQTERE NLRIALRYYN QSEGGSHTMQ VMYGCDVGPD GPFLRGYEQH AYDGKDYIAL NEDLRSWTAA DMAAQITKRK WEAARRAEQR RVYLEGEFVE WLRRYLENGK ETLQRADPPK THMTHHPISD HEATLRCWAL GFYPAEITLT WQRDGEDQTQ DTELVETRPA GDGTFQKWAA VVVPSGEEQR YTCHVQHEGL PEPLTLRWEP SSQPTVPIVG IVAGLVLLVA VVTGAVVAAV MWRKKSSDRK GGSYSQAASS NSAQGSDVSL TA //